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Diagnosis in case of Intellectual Disability and Multipele Congenital Anomalies (SNP-based array or NGS sequencing)

  • Sectie Genoomdiagnostiek / Genome Diagnostics Nijmegen
  • Afdeling Genetica
  • Radboudumc - Radboud universitair medisch centrum
  • Geert Grooteplein-Zuid 10
  • 6525 GA NIJMEGEN
  • NETHERLANDS
  • Director of laboratory : Dr H.G. [Helger] IJNTEMA
  • More information
  • Phone : +31 (0)24 361 3799
  • Additional Phone : -
  • Fax : +31 (0)24 361 6658
  • Website
  • Contact
Last update: September 2023

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Deletion / Duplication analysis
NGS sequencing (except WES)
Deletion / Duplication analysis
Array based techniques
Cytogenetics
Detection of chromosome alterations large in size
NGS sequencing (except WES)
Detection of microdeletions/microduplications
Array based techniques

List of diseases and genes

List of diseases tested (1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.